METTL23 Chromosome 17
Methyltransferase 23, arginine
Upload your DNA to see your personal genotypes for variants in METTL23.
What This Gene Does
The protein encoded by this gene functions as a transcription factor regulator in the transcriptional pathway for human cognition. It is a partner of the alpha subunit of the GA-binding protein transcription factor. Mutations in this gene cause mild autosomal recessive intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Gene Info
Gene Group
"7BS protein arginine methyltranferases|Arginine methyltransferases"
Locus Type
gene with protein product
Location
17q25.2
Ensembl
ENSG00000181038
Associated Conditions (3)
Inborn genetic diseases
Intellectual disability
autosomal recessive 44
Key Variants
RS1443221868
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS527442928
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 44, Inborn genetic diseases
Health Risk
RS746117702
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, autosomal recessive 44
Health Risk
RS773937309
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, autosomal recessive 44
Health Risk
RS1327060248
Likely pathogenic
Health Risk
RS2143866789
Likely pathogenic
Intellectual disability, autosomal recessive 44, Intellectual disability
Health Risk
RS2509729261
Likely pathogenic
Intellectual disability, autosomal recessive 44, Intellectual disability
Health Risk
RS2509733625
Likely pathogenic
Intellectual disability, autosomal recessive 44, Intellectual disability
Health Risk
RS756957958
Likely pathogenic
Health Risk
RS757197161
Likely pathogenic
Health Risk
RS1057521913
Pathogenic
Health Risk
RS1278342620
Pathogenic
Intellectual disability, autosomal recessive 44, Intellectual disability
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1443221868 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS527442928 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 44, Inborn genetic diseases |
| RS746117702 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, autosomal recessive 44 |
| RS773937309 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, autosomal recessive 44 |
| RS1327060248 | Health Risk | Likely pathogenic | — |
| RS2143866789 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 44, Intellectual disability |
| RS2509729261 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 44, Intellectual disability |
| RS2509733625 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 44, Intellectual disability |
| RS756957958 | Health Risk | Likely pathogenic | — |
| RS757197161 | Health Risk | Likely pathogenic | — |
| RS1057521913 | Health Risk | Pathogenic | — |
| RS1278342620 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 44, Intellectual disability |
| RS1382444181 | Health Risk | Pathogenic | Inborn genetic diseases, Intellectual disability, autosomal recessive 44 |
| RS1462161137 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2143867385 | Health Risk | Pathogenic | — |
| RS2509730596 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 44, Intellectual disability |
| RS587777645 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 44, Intellectual disability |
| RS587777646 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 44, Intellectual disability |
| RS587777644 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 44, Inborn genetic diseases |
| RS746453662 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Intellectual disability, autosomal recessive 44 |
| RS760933323 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal recessive 44, Intellectual disability |
| RS767883844 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Intellectual disability |